Mutagenetix > Incidental Mutation

Incidental Mutation 'R9789:Thap12'

734524

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R9789 (G1)

Quality Score

81.0075

Status

Not validated

Chromosome

Chromosomal Location

98703103-98718062 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 98703385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033009] [ENSMUST00000126356] [ENSMUST00000153566]

AlphaFold

Q9CUX1

Predicted Effect

probably benign
Transcript: ENSMUST00000033009

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753

Domain	Start	End	E-Value	Type
THAP	3	92	8.38e-22	SMART
DM3	21	91	1.49e-20	SMART
Pfam:DUF4371	112	338	1.9e-22	PFAM
low complexity region	433	445	N/A	INTRINSIC
Pfam:Dimer_Tnp_hAT	631	726	6.9e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126356

SMART Domains

Protein: ENSMUSP00000118403
Gene: ENSMUSG00000030753

Domain	Start	End	E-Value	Type
THAP	3	78	3.21e-9	SMART
DM3	21	78	1.89e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153566

SMART Domains

Protein: ENSMUSP00000118736
Gene: ENSMUSG00000030753

Domain	Start	End	E-Value	Type
THAP	3	92	8.38e-22	SMART
DM3	21	91	1.49e-20	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,184,583	S1038R	probably benign	Het
Aar2	T	C	2: 156,550,825	F45L	probably damaging	Het
Abcg2	A	G	6: 58,664,548	Y122C	probably damaging	Het
Arfgef1	A	T	1: 10,173,202	W1041R	probably damaging	Het
Ash1l	A	G	3: 88,966,066	N52S	probably benign	Het
Asrgl1	T	A	19: 9,116,610	T185S	probably damaging	Het
Astl	T	A	2: 127,350,226	S234T	probably damaging	Het
Atp5j2	T	C	5: 145,183,846	Y87C	probably damaging	Het
Atxn7l1	A	T	12: 33,346,063	R264W	probably damaging	Het
Axin2	T	C	11: 108,949,354	Y828H	probably damaging	Het
Bnipl	T	C	3: 95,245,829	D145G	possibly damaging	Het
C8b	A	T	4: 104,782,994	M165L	probably benign	Het
Cd109	T	C	9: 78,634,662	L87P	possibly damaging	Het
Cdk17	C	T	10: 93,225,029	P232S	probably damaging	Het
Cnot1	T	C	8: 95,729,144	E1995G	probably damaging	Het
Csf2rb2	G	A	15: 78,284,996	A653V	probably benign	Het
Cutc	A	G	19: 43,768,260	N264D	probably benign	Het
Cxcr4	C	T	1: 128,589,147	W259*	probably null	Het
Dnah8	T	C	17: 30,761,130		probably null	Het
Dsp	T	C	13: 38,183,961	I652T	probably benign	Het
Dstyk	A	T	1: 132,454,121	M538L	probably benign	Het
Eppk1	T	A	15: 76,109,019	I1221F	probably benign	Het
Ern2	T	A	7: 122,170,262	Y847F	probably damaging	Het
Exosc7	T	A	9: 123,130,925	V197D	probably damaging	Het
Gabra1	T	C	11: 42,133,525	Y441C	probably damaging	Het
Garem1	G	A	18: 21,129,928	P610S	possibly damaging	Het
Garem2	T	A	5: 30,114,332	V264E	probably damaging	Het
Gata2	G	A	6: 88,200,290	G101S	probably benign	Het
Gcnt4	A	G	13: 96,946,921	T242A	probably benign	Het
Ghitm	A	C	14: 37,130,762	Y120*	probably null	Het
Gimap7	A	G	6: 48,723,536	S19G	probably damaging	Het
Gm5475	G	A	15: 100,427,000	G103E	unknown	Het
Gstcd	A	T	3: 133,084,596	C137S	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,771,417		probably benign	Het
Hfm1	T	C	5: 106,917,480	D111G	probably benign	Het
Ighg2b	A	G	12: 113,306,684	I238T		Het
Il2ra	A	C	2: 11,680,350	M166L	probably benign	Het
Itga1	A	T	13: 115,035,284	L95*	probably null	Het
Itpr3	A	G	17: 27,089,941	T373A	probably benign	Het
Klhl28	A	G	12: 64,950,097	V490A	probably damaging	Het
Kntc1	A	T	5: 123,760,643	N200I	possibly damaging	Het
L3mbtl4	A	G	17: 68,459,799	K167R	probably benign	Het
Lgals1	A	T	15: 78,929,730	T63S	probably benign	Het
Lnpep	C	A	17: 17,575,334	C305F	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mcmbp	A	G	7: 128,709,859	I310T	possibly damaging	Het
Mical2	G	A	7: 112,346,789	R986H	probably damaging	Het
Muc5b	A	T	7: 141,861,593	S2759C	possibly damaging	Het
Myh7	A	G	14: 54,991,927	V138A	possibly damaging	Het
Ncr1	T	G	7: 4,341,301		probably null	Het
Ndufa10	A	T	1: 92,469,888	D145E	possibly damaging	Het
Neo1	T	A	9: 58,894,024		probably null	Het
Ninl	A	T	2: 150,949,781	S941T	probably benign	Het
Nrm	T	A	17: 35,861,519		probably null	Het
Nup214	T	C	2: 32,017,215	V1018A	possibly damaging	Het
Odf1	A	G	15: 38,219,472	I15V	probably benign	Het
Olfr1023	C	T	2: 85,886,994	H65Y	probably damaging	Het
Olfr118	T	A	17: 37,672,168	N48K	probably damaging	Het
Olfr1406	C	T	1: 173,183,891	R181H	probably benign	Het
Olfr32	T	A	2: 90,138,660	T160S	probably benign	Het
Olfr376	A	T	11: 73,374,884	N48I	probably damaging	Het
Olfr490	A	T	7: 108,286,691	V145D	probably benign	Het
Olfr670	A	T	7: 104,960,450	I94N	probably damaging	Het
Olfr850	C	A	9: 19,478,086	D55Y	probably benign	Het
Osgin2	A	T	4: 15,998,957	Y222N	probably damaging	Het
Pcdhga10	T	C	18: 37,749,310	V708A	probably benign	Het
Pfn3	T	C	13: 55,415,087	D27G	possibly damaging	Het
Plch2	A	G	4: 155,010,865		probably null	Het
Plin2	C	A	4: 86,658,677	Q270H	probably damaging	Het
Polk	A	G	13: 96,493,895	F386S	probably damaging	Het
Prkar1a	G	A	11: 109,665,952	G286E	probably damaging	Het
Prodh	A	T	16: 18,080,185	L276Q	probably damaging	Het
Ranbp10	T	C	8: 105,786,674	N202S	probably damaging	Het
Rapgef6	C	A	11: 54,649,271	T724K	probably benign	Het
Rnf144a	T	A	12: 26,327,575	K56N	probably benign	Het
Rpa1	T	A	11: 75,313,112	K303I	probably damaging	Het
Slc16a9	A	C	10: 70,282,510	N220H	possibly damaging	Het
Slc28a3	T	C	13: 58,576,850	I197V	probably benign	Het
Slc35d1	A	T	4: 103,214,749	F19I		Het
Sohlh2	A	T	3: 55,192,300	E164D	probably damaging	Het
Sord	A	T	2: 122,263,284	K295*	probably null	Het
Spata31d1b	A	G	13: 59,712,382	Y23C	probably benign	Het
Stard9	T	A	2: 120,679,936	Y333N	probably damaging	Het
Tas2r107	A	G	6: 131,659,790	F99L	probably damaging	Het
Tmprss9	A	T	10: 80,895,159	T840S	probably benign	Het
Trim16	T	A	11: 62,829,200		probably null	Het
Ttc16	C	T	2: 32,774,793		probably null	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Unc80	A	T	1: 66,612,212	Y1572F	possibly damaging	Het
Usp42	G	T	5: 143,720,305	A320D	possibly damaging	Het
Vmn2r94	T	C	17: 18,243,776	T751A	probably damaging	Het
Zbtb41	C	T	1: 139,440,346	L591F	probably damaging	Het
Zdhhc5	T	A	2: 84,694,318	E219D	probably damaging	Het
Zfp248	A	T	6: 118,429,051	F526I	probably damaging	Het
Zfp322a	T	C	13: 23,356,388	K395E	possibly damaging	Het
Zfp423	G	A	8: 87,780,249	P1156S	probably benign	Het
Zfp644	T	C	5: 106,638,265	T139A	possibly damaging	Het

Other mutations in Thap12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Thap12	APN	7	98716137	missense	possibly damaging	0.82
IGL01145:Thap12	APN	7	98712903	makesense	probably null
IGL01973:Thap12	APN	7	98716499	missense	possibly damaging	0.58
IGL02404:Thap12	APN	7	98710133	missense	probably damaging	1.00
H8562:Thap12	UTSW	7	98715107	missense	probably damaging	0.98
PIT4453001:Thap12	UTSW	7	98715038	missense	probably benign	0.00
R0090:Thap12	UTSW	7	98715893	missense	probably damaging	1.00
R0254:Thap12	UTSW	7	98715281	missense	probably benign	0.03
R1344:Thap12	UTSW	7	98716830	missense	probably damaging	0.97
R1384:Thap12	UTSW	7	98703438	missense	probably damaging	0.98
R1418:Thap12	UTSW	7	98716830	missense	probably damaging	0.97
R1448:Thap12	UTSW	7	98716023	missense	probably benign	0.01
R1493:Thap12	UTSW	7	98715438	missense	probably benign	0.30
R1906:Thap12	UTSW	7	98716740	missense	probably damaging	1.00
R1932:Thap12	UTSW	7	98716838	missense	possibly damaging	0.77
R1992:Thap12	UTSW	7	98716365	missense	possibly damaging	0.68
R2044:Thap12	UTSW	7	98716620	missense	probably damaging	1.00
R2092:Thap12	UTSW	7	98716449	missense	possibly damaging	0.70
R2160:Thap12	UTSW	7	98710126	missense	probably damaging	0.97
R3850:Thap12	UTSW	7	98716663	missense	probably damaging	1.00
R4086:Thap12	UTSW	7	98716494	missense	possibly damaging	0.94
R4162:Thap12	UTSW	7	98710078	intron	probably benign
R4554:Thap12	UTSW	7	98715845	missense	probably benign	0.00
R4555:Thap12	UTSW	7	98715845	missense	probably benign	0.00
R4556:Thap12	UTSW	7	98715845	missense	probably benign	0.00
R4557:Thap12	UTSW	7	98715845	missense	probably benign	0.00
R4659:Thap12	UTSW	7	98710091	intron	probably benign
R4734:Thap12	UTSW	7	98715954	missense	probably damaging	0.98
R4734:Thap12	UTSW	7	98715955	nonsense	probably null
R5794:Thap12	UTSW	7	98716393	missense	probably benign	0.11
R5994:Thap12	UTSW	7	98716030	nonsense	probably null
R6298:Thap12	UTSW	7	98703405	missense	probably damaging	1.00
R6515:Thap12	UTSW	7	98707095	missense	probably damaging	0.97
R6624:Thap12	UTSW	7	98715586	nonsense	probably null
R6625:Thap12	UTSW	7	98716070	missense	probably benign	0.00
R6965:Thap12	UTSW	7	98715462	missense	probably damaging	1.00
R7560:Thap12	UTSW	7	98710231	missense	probably damaging	0.99
R8182:Thap12	UTSW	7	98716377	missense	probably damaging	1.00
R8713:Thap12	UTSW	7	98707076	missense	probably benign	0.30
R8897:Thap12	UTSW	7	98715327	missense	probably benign	0.38
R9099:Thap12	UTSW	7	98715393	missense	probably damaging	1.00
R9260:Thap12	UTSW	7	98707073	nonsense	probably null
R9339:Thap12	UTSW	7	98715116	missense	possibly damaging	0.95
R9467:Thap12	UTSW	7	98710141	missense	probably damaging	0.99
R9644:Thap12	UTSW	7	98715288	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATTGAGACTACGCAGCTGGC -3'
(R):5'- CTTTGACAGCTAAGGAACCGC -3'

Sequencing Primer
(F):5'- ACCCTCTCGAGTGCGCATG -3'
(R):5'- TAAGCGCCCACTTCATCCG -3'

Posted On

2022-11-14